PhenomeGene — Human Disease Gene Website SeriesMED13

Publications

Snijders Blok L et al.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Hum Genet. 2018;137(5):375-388. PMID: 29740699.

De Nardi L et al.Could the MED13 mutations manifest as a Kabuki-like syndrome? Am J Med Genet A. 2021;185(2):584-590. PMID: 33258286.

Rogers AP et al.A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. Am J Med Genet A. 2021;185(8):2586-2592. PMID: 33931951.

Trivisano M et al.MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.Seizure. 2022;101: 211–217. PMID: 36087421.